TY - JOUR
T1 - Alterations in SP-B and SP-C expression in neonatal lung disease
AU - Nogee, Lawrence M.
PY - 2004
Y1 - 2004
N2 - The Hydrophobic surfactant proteins, SP-B and SP-C, have important roles in surfactant function. The importance of these proteins in normal lung function is highlighted by the lung diseases associated with abnormalities in their expression. Mutations in the gene encoding SP-B result in severe, fatal neonatal lung disease, and mutations in the gene encoding SP-C are associated with chronic interstitial lung diseases in newborns, older children, and adults. This work reviews the current state of knowledge concerning the lung diseases associated with mutations in the SP-B and SP-C genes, and the potential roles of abnormal SP-B and SP-C expression and genetic variation in these genes in other lung diseases.
AB - The Hydrophobic surfactant proteins, SP-B and SP-C, have important roles in surfactant function. The importance of these proteins in normal lung function is highlighted by the lung diseases associated with abnormalities in their expression. Mutations in the gene encoding SP-B result in severe, fatal neonatal lung disease, and mutations in the gene encoding SP-C are associated with chronic interstitial lung diseases in newborns, older children, and adults. This work reviews the current state of knowledge concerning the lung diseases associated with mutations in the SP-B and SP-C genes, and the potential roles of abnormal SP-B and SP-C expression and genetic variation in these genes in other lung diseases.
KW - Genetic basis of disease
KW - Interstitial lung disease
KW - Lung development
KW - Mutation
KW - Respiratory distress syndrome
UR - http://www.scopus.com/inward/record.url?scp=2342592703&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=2342592703&partnerID=8YFLogxK
U2 - 10.1146/annurev.physiol.66.032102.134711
DO - 10.1146/annurev.physiol.66.032102.134711
M3 - Review article
C2 - 14977415
AN - SCOPUS:2342592703
SN - 0066-4278
VL - 66
SP - 601
EP - 623
JO - Annual review of physiology
JF - Annual review of physiology
ER -